Variant report

Variant	rs3801443
Chromosome Location	chr7:11102349-11102350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11102318..11104655-chr7:11104749..11107010,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10257220	1.00[ASN][1000 genomes]
rs10487898	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12666576	0.98[ASN][1000 genomes]
rs12669769	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12669865	1.00[JPT][hapmap];0.90[YRI][hapmap]
rs12670220	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12671481	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12671644	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.95[ASN][1000 genomes]
rs12672069	1.00[ASN][1000 genomes]
rs12672128	1.00[ASN][1000 genomes]
rs12674325	1.00[ASN][1000 genomes]
rs16876772	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[ASN][1000 genomes]
rs16876779	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17149825	0.90[ASN][1000 genomes]
rs17149830	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17149834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17149838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17163803	0.86[ASN][1000 genomes]
rs17163854	1.00[JPT][hapmap];0.90[YRI][hapmap]
rs17163857	0.90[ASN][1000 genomes]
rs17163872	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.90[ASN][1000 genomes]
rs17163880	0.90[ASN][1000 genomes]
rs17163892	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17163894	0.90[CHB][hapmap];0.95[ASN][1000 genomes]
rs17163895	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs17163897	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17163898	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17163903	1.00[ASN][1000 genomes]
rs17163914	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.92[ASN][1000 genomes]
rs17163915	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17163919	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs17163921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17163995	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs17163999	1.00[YRI][hapmap]
rs2301960	0.95[ASN][1000 genomes]
rs2301961	0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2301962	1.00[ASN][1000 genomes]
rs28670953	0.92[ASN][1000 genomes]
rs3779409	0.95[ASN][1000 genomes]
rs3779410	1.00[ASN][1000 genomes]
rs3801434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs3801439	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs3801440	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs3801445	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3801456	1.00[JPT][hapmap];0.90[YRI][hapmap]
rs3815234	1.00[ASN][1000 genomes]
rs4348382	1.00[ASN][1000 genomes]
rs4398795	0.91[ASN][1000 genomes]
rs4521663	0.95[ASN][1000 genomes]
rs60680874	1.00[ASN][1000 genomes]
rs61011519	1.00[ASN][1000 genomes]
rs6950505	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6951535	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6956108	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6970876	1.00[ASN][1000 genomes]
rs73678561	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv606194	chr7:11042905-11144078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
16	nsv830901	chr7:11093455-11272219	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	nsv916426	chr7:11095057-11201696	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11014800-11117400	Weak transcription	HSMMtube	muscle
2	chr7:11015200-11108200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:11031600-11103800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:11035800-11113000	Weak transcription	Esophagus	oesophagus
5	chr7:11035800-11113200	Weak transcription	Lung	lung
6	chr7:11035800-11123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:11039000-11108800	Weak transcription	Psoas Muscle	Psoas
8	chr7:11046000-11128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:11046600-11103400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:11046600-11122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
13	chr7:11048200-11113400	Weak transcription	Aorta	Aorta
14	chr7:11054400-11113200	Weak transcription	Pancreas	Pancrea
15	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
16	chr7:11064400-11104200	Weak transcription	NHEK	skin
17	chr7:11064400-11112400	Weak transcription	Brain Germinal Matrix	brain
18	chr7:11064400-11112400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:11064400-11122800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:11064600-11111800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:11066400-11106800	Weak transcription	Fetal Kidney	kidney
22	chr7:11066600-11104400	Weak transcription	NHDF-Ad	bronchial
23	chr7:11068400-11102800	Weak transcription	Small Intestine	intestine
24	chr7:11071800-11103800	Weak transcription	Right Ventricle	heart
25	chr7:11071800-11113000	Weak transcription	Fetal Intestine Small	intestine
26	chr7:11071800-11113000	Weak transcription	Fetal Stomach	stomach
27	chr7:11076400-11193200	Weak transcription	Ovary	ovary
28	chr7:11076800-11122200	Weak transcription	HMEC	breast
29	chr7:11077000-11102800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:11077000-11130600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:11077000-11162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:11077200-11108800	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:11077600-11106400	Weak transcription	NH-A	brain
34	chr7:11078600-11122400	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:11078800-11116200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:11079200-11111600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:11085400-11104000	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:11086600-11143800	Weak transcription	HUVEC	blood vessel
39	chr7:11090600-11107400	Strong transcription	Dnd41	blood
40	chr7:11091000-11116400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:11091800-11174200	Weak transcription	Left Ventricle	heart
42	chr7:11092400-11104200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:11092600-11112600	Weak transcription	Fetal Brain Female	brain
44	chr7:11092600-11122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:11092600-11122600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:11092800-11106800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:11094200-11122000	Weak transcription	HepG2	liver
48	chr7:11094600-11153400	Weak transcription	Hela-S3	cervix
49	chr7:11095600-11122800	Weak transcription	Brain Anterior Caudate	brain
50	chr7:11097400-11129000	Weak transcription	Placenta Amnion	Placenta Amnion

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